Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 38
- 试验地点
- 1
研究概览
简要总结
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a complex genetic disorder characterized by lack of sweat, sebaceous, submucous, Meibomian and mammary glands, sparse hair and eyebrows, and oligodontia. Insufficient function of the respective glands may lead to chronic inflammatory processes in airways and eyes of the affected individuals. The investigators will quantify sweat glands of XLHED patients, assess chronic conjunctivitis and blepharitis in conjunction with quantitative and/or qualitative alterations of lacrimal fluid in these subjects, evaluate lung function and assess chronic inflammatory processes in the airways by NO measurements. The data should provide a basis for genotype-phenotype correlations.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Years 至 60 Years(Child, Adult)
- 性别
- Male
- 接受健康志愿者
- 是
入选标准
- •for patients: X-linked hypohidrotic ectodermal dysplasia caused by mutations in the gene EDA
- •written informed consent
排除标准
- •acute respiratory disease
- •acute allergic problem, e.g. allergic coryza
- •implantable electronic devices, e.g. pacemaker
研究者
Prof. Dr. Holm Schneider
Head of the Division of Molecular Pediatrics
University Hospital Erlangen
